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‣ Influência da renda sobre as despesas com alimentação fora do domicílio, no Brasil, 2002-2003; Influence of income on food expenditures away from home among Brazilian families, 2002-2003

CLARO, Rafael Moreira; LEVY, Renata Bertazzi; BANDONI, Daniel Henrique
Fonte: Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz Publicador: Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz
Tipo: Artigo de Revista Científica
Português
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Objetivou-se descrever e avaliar a influência da renda sobre a participação da alimentação fora do domicílio no Brasil. Utilizaram-se dados coletados pela Pesquisa de Orçamentos Familiares realizada em 2002/2003 (POF 2002/2003), pelo Instituto Brasileiro de Geografia e Estatística. Analisaram-se os registros dos gastos com aquisições de alimentos e bebidas consumidos fora do domicílio. A associação entre a participação da alimentação fora do domicílio e a renda, ajustada para atributos sócio-demográficos, foi estudada por meio de modelos de regressão utilizados para estimação de coeficientes de elasticidade-renda. A alimentação fora do domicílio representou 21% do total dos gastos com alimentação; destaque-se que o incremento de 10% na renda aumentaria em 3% a participação da alimentação fora do domicílio. O efeito da renda sobre a participação da alimentação fora, ainda que sempre positivo, diminui conforme elevação da renda, sendo alto nos domicílios com renda inferior a R$68,70 per capita/mês. Há influência da renda nos gastos com alimentação fora do domicílio, assim a evolução favorável da renda resultará em aumento dessa forma de se alimentar.; This study describes and evaluates the influence of income on the percentage of food expenditures away from home for Brazilian families. Food acquisition data from the National Household Budget Survey conducted from 2002 to 2003 (POF 2002/2003) by the Brazilian Institute of Geography and Statistics (IBGE) or National Census Bureau was used in the analysis. Information on food-and-drink expenditures away from home was analyzed. The influence of income on the share of food purchased away from home in the household budget...

‣ A phylogenetic study of hepatitis B virus in chronically infected Brazilian patients of Western and Asian descent

CLEMENTE, Cintia Mendes; CARRILHO, Flair Jose; PINHO, Joao Renato Rebello; ONO-NITA, Suzane Kioko; SILVA, Luiz Caetano Da; MOREIRA, Regina Celia; LEMOS, Marcilio Figueiredo; MELLO, Isabel Maria Vicente Guedes de Carvalho
Fonte: SPRINGER TOKYO Publicador: SPRINGER TOKYO
Tipo: Artigo de Revista Científica
Português
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Hepatitis B virus (HBV) causes one of the most important chronic viral infections worldwide. HBV is classified into eight genotypes whose epidemiology varies geographically. In Brazil, genotypes A, D, and F are more frequent, while in East Asia, genotypes B and C predominate. Several studies showed that immigrants retain the HBV infection pattern of their ancestral country. To identify HBV genotypes infecting chronic carriers in Brazilian families of Western and Asian descent by Hepatitis B surface antigen gene sequencing and analyze the route of viral transmission by phylogenetic analysis of viral sequences. Eighty-seven people chronically infected with HBV were separated into two groups: Western descent (27) and Asian descent (60). Surface and pre-core/core genes were amplified from serum HBV-DNA and sequences were subjected to phylogenetic analysis. HBV genotype A was found in 74% of Western subjects, while genotype C was found in 94% of Asian patients. Thirty-eight percent of Western families were infected with HBV with similar pre-core/core sequences, while only 25% of Asian families showed similarity in these sequences. Phylogenetical analysis of pre-core/core HBV gene suggested intra-familial transmission of HBV in 38% of Western families and 25% of Asian families. Analysis of HBsAg gene sequences helped to define the HBV genotype but did not allow inferring route of transmission as its sequences showed a smaller phylogenetic signal than pre-core/core sequences. Chronic HBV carriers of Asian descent born in or living in Brazil were infected with the same HBV genotype predominant in their ancestral country.; FAPESP-Fundacao de Amparo a Pesquisa do Estado de Sao Paulo[00/00998/1]; FAPESP-Fundacao de Amparo a Pesquisa do Estado de Sao Paulo[0011457/1]; Alves de Queiroz Family Fund

‣ Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

ZECHI-CEIDE, Roseli Maria; OLIVEIRA, Nelio Alessando Jesus; GUION-ALMEIDA, Maria Leine; ANTUNES, Luis Fernando B. B.; RICHIERI-COSTA, Antonio; PASSOS-BUENO, Maria Rita Santos
Fonte: ELSEVIER SCIENCE BV Publicador: ELSEVIER SCIENCE BV
Tipo: Artigo de Revista Científica
Português
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We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of cleft palate associated to facial and ocular anomalies of Stickler syndrome. Analysis of COL2A1 gene revealed 9 novel and 4 previously described pathogenic mutations. Except for the mutation c.556G>T (p.Gly186X), all the others were located in the triple helical domain. We did not find genotype/phenotype correlation in relation to type and position of the mutation in the triple helical domain. However, a significantly higher proportion of myopia in patients with mutations located in this domain was observed in relation to those with the mutation in the non-tripe helical domain (c.556G>T; P < 0.04). A trend towards a higher prevalence of glaucoma, although not statistically significant, was observed in the presence of the mutation c.556G>T. It is possible. that this mutation alters the splicing of the mRNA instead of only creating a premature stop codon and therefore it can lead to protein products of different ocular effects. One novel DNA variation (c.1266+7G>C) occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation. As in silico analysis predicted that the c.1266+7G>C DNA variation can affect the efficiency of the splicing...

‣ Heritability of physical activity traits in Brazilian families: the Baependi Heart Study

Horimoto, Andréa Roseli Vançan Russo; Giolo, Suely R; Oliveira, Camila M; Alvim, Rafael O; Soler, Julia Maria Pavan; Andrade, Mariza de; Krieger, Jose Eduardo; Pereira, Alexandre C
Fonte: BioMed Central; London Publicador: BioMed Central; London
Tipo: Artigo de Revista Científica
Português
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Background It is commonly recognized that physical activity has familial aggregation; however, the genetic influences on physical activity phenotypes are not well characterized. This study aimed to (1) estimate the heritability of physical activity traits in Brazilian families; and (2) investigate whether genetic and environmental variance components contribute differently to the expression of these phenotypes in males and females. Methods The sample that constitutes the Baependi Heart Study is comprised of 1,693 individuals in 95 Brazilian families. The phenotypes were self-reported in a questionnaire based on the WHO-MONICA instrument. Variance component approaches, implemented in the SOLAR (Sequential Oligogenic Linkage Analysis Routines) computer package, were applied to estimate the heritability and to evaluate the heterogeneity of variance components by gender on the studied phenotypes. Results The heritability estimates were intermediate (35%) for weekly physical activity among non-sedentary subjects (weekly PA_NS), and low (9-14%) for sedentarism, weekly physical activity (weekly PA), and level of daily physical activity (daily PA). Significant evidence for heterogeneity in variance components by gender was observed for the sedentarism and weekly PA phenotypes. No significant gender differences in genetic or environmental variance components were observed for the weekly PA_NS trait. The daily PA phenotype was predominantly influenced by environmental factors...

‣ Identificação de mutações e rastreamento gênico familiar em famílias brasileiras com neoplasia endócrina múltipla tipo 1; Identification of germline mutations and familial genetic screening in brazilian families with multiple endocrine neoplasia type 1

Toledo, Rodrigo de Almeida
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 24/04/2007 Português
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A Neoplasia Endócrina Múltipla tipo 1 (NEM1, OMIM 131100) é uma doença essencialmente caracterizada por sua complexidade clínica. A NEM1 afeta tanto tecidos endócrinos quanto tecidos não-endócrinos; apresenta tanto tumores malignos quanto tumores benignos; e apresenta extensa variabilidade clínica inter e intra-familiar quanto aos tipos de tumores e quanto à ordem de desenvolvimento e detecção clínica desses tumores. Em sua forma familiar, a NEM1 é transmitida por um padrão de herança autossômico dominante com elevada penetrância e é identificada pela presença de um parente de primeiro grau apresentando ao menos um tumor NEM1-relacionado. A realização do diagnóstico de NEM1 pode ser: a) clínico, pelo reconhecimento em único paciente de tumores em pelo menos duas das três glândulas endócrinas-alvo principais (paratireóides, hipófise e pâncreas endócrino) e/ou b) genético, pela identificação de mutação germinativa no gene responsável pela doença (MEN1). A grande maioria dos casos NEM1 (90%) apresentam mutações inativadoras no gene MEN1. Não há correlações descritas até o momento entre o genótipo e o fenótipo. Não há também regiões preferenciais (hot-spots) para as mutações no gene MEN1. Além disto...

‣ Estudo longitudinal sobre similaridade, transmissão, e estabilidade de colonização de Estreptococcus mutans em famílias brasileiras; Longitudinal study of transmission, diversity and stability of mutans streptococci genotypes in Brazilian families

Rubira, Cássia Maria Fischer
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 13/09/2007 Português
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O objetivo deste estudo foi investigar longitudinalmente a transmissão de Streptococcus mutans em um grupo de famílias brasileiras de baixa renda. Um critério de inclusão importante foi o de todos os adultos conviverem na mesma casa com a criança. Participaram da pesquisa 14 mães, pais e crianças e 8 avós. Amostras de saliva das crianças foram coletadas em quatro visitas durante 22 meses, para pesquisa de S.mutans. Foram positivas apenas 8 crianças, que tiveram os seus isolados e os isolados de suas famílias identificados pelo método de hibridização DNA-DNA. Um total de 506 isolados de S.mutans foi genotipado pelo método de AP-PCR, usando o primer OPA-02. Foram detectados 20 genótipos diferentes nas 8 famílias, variando de 1 a 5 nos adultos e 1-2 nas crianças. Todas as mães e alguns pais e avós compartilharam genótipos com as crianças. Em todas as famílias foram encontrados genótipos homólogos nos adultos. Alguns genótipos foram estáveis, e outros, se perderam, mas o compartilhamento pode favorecer a contínua reinfecção. Três crianças desenvolveram cárie no período. O encontro de genótipos de cada membro da família na criança e o compartilhar de genótipos nos adultos, sugerem uma reavaliação de modelos preventivos antimicrobianos focalizados apenas na figura materna.; The objective of this study was to investigate in a longitudinal study the transmission of Streptococcus mutans in Brazilian families of a low socioeconomic status. An important entry criterion for the study was to include all members of a household in the study. The study cohort was comprised of 14 mothers...

‣ Migrações, processo educacional e os dekassegui: um estudo da rede de relações em torno da criança nikkei na escola brasileira no Japão; Migrations, educational process and the dekassegui: a study of the network of relations surrounding the nikkei child in Brazilian schools in Japan.

Tongu, Érica Ayaco Sacata
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Tese de Doutorado Formato: application/pdf
Publicado em 21/06/2010 Português
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O objetivo deste trabalho é traçar um quadro analítico das questões em torno da problemática educacional das crianças filhas de dekassegui e compreender como as redes de relações influenciam a relação entre família e as escolas brasileiras no Japão. A questão que se impõe, nesse caso, é: em que contexto se compõem as redes de relações em torno da criança nikkei na escola brasileira no Japão e quais são os principais aspectos que envolvem tais redes? Parte-se da hipótese de que os pais, presos a um cotidiano conflitante e desgastante, não conseguem perceber o quanto as questões migratórias, de nacionalidade e os aspectos legais das escolas influenciam a relação família-escola brasileira no Japão. O tema proposto para o desenvolvimento do presente estudo exige um trabalho com conceitos de grandes áreas de pesquisa, como os estudos históricos, migratórios e educacionais cada qual em sua complexidade de forma interligada, compondo consequentemente um quadro multidimensional e também complexo. Faz-se necessário, portanto, trabalhar com conceitos ligados mais especificamente à questão de migrações de japoneses para o Brasil e brasileiros/ nikkei para o Japão, em seus diferentes contextos históricos e educação propriamente dita...

‣ CHEK2 1100delC germline mutation : a frequency study in hereditary breast and colon cancer Brazilian families; Mutação germinativa 1100delC no gene CHEK2 : estudo da frequência em famílias brasileiras com câncer de mama e cólon hereditários

Abud, Jamile; Prolla, João Carlos; Rossi, Cristina; Palmero, Edenir Inêz; Vargas, Fernando Regla; Nunes, Luciana Neves; Achatz, Maria Isabel Alves de Souza Waddington; Moreira, Miguel Angelo Martins; Prolla, Patrícia Ashton; Izetti, Patricia; Cossio, S
Fonte: Universidade Federal do Rio Grande do Sul Publicador: Universidade Federal do Rio Grande do Sul
Tipo: Artigo de Revista Científica Formato: application/pdf
Português
Relevância na Pesquisa
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Introdução - CHEK2 codifica uma proteína quinase envolvida em um ponto de checagem do ciclo celular que desempenha um papel importante na via de reparação do DNA, danos ativados principalmente por ATM (Ataxia Telangiectasia Mutado) em resposta a danos na dupla hélice do DNA. A mutação germinativa 1100delC no gene CHEK2 tem sido descrita como um alelo de baixa penetrância em um número significativo de famílias com câncer de mama e cólon em certos países e também está associada com risco aumentado de câncer de mama contralateral em mulheres previamente afetadas pela doença. Cerca de 5%-10% de todos os cânceres de mama e colorretais estão associados a predisposição hereditária e o seu reconhecimento é de grande importância para o aconselhamento genético e gestão do risco de câncer. Objetivos - Neste estudo foi avaliada a frequência da mutação germinativa 1100delC no gene CHEK2 em 59 diferentes indivíduos brasileiros com critérios clínicos para a síndrome de câncer de mama e cólon hereditários. Método - Utilizamos como estratégia a realização do PCR de longo alcance seguido de sequenciamento. Resultados - A mutação 1100delC foi encontrada em um indivíduo (1,7%), indicando que esta mutação germinativa não é comumente encontrada em famílias brasileiras com múltiplos diagnósticos de câncer de mama e câncer colorretal. Conclusão - Estes resultados devem ser confirmados em uma série maior de famílias...

‣ Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A

De Carvalho, F. M.; Wolfgramm, E. de Vargas; Paneto, G. G.; Careta, F. de Paula; Perrone, A. M. Spagnol; De Paula, F.; Louro, I. D.
Fonte: Blackwell Publishing Publicador: Blackwell Publishing
Tipo: Artigo de Revista Científica Formato: 409-412
Português
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Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers in carrier detection procedures. Sixty-three unrelated healthy volunteers and 10 haemophilic families were studied. Two microsatellite repeats and one HindIII RFLP markers were used. Carrier and non-carrier status could be determined in 80% of females investigated. Intron 13 markers presented the highest heterozygosity rate (79%) followed by intron 22 (68%) and intron 19 (57%). When all three markers were used together, linkage analysis informativeness increased significantly. We conclude that these markers are suitable for carrier detection in the Brazilian population and we recommend their use in combination to maximize diagnostic efficiency.

‣ Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Santos, Maria C.L.G.; Hart, P. Suzanne; Ramaswami, Mukundhan; Kanno, Claudia M.; Hart, Thomas C.; Line, Sergio R.P.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica
Português
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Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DMA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

‣ Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene

Povoa,Cristine Araújo; Malta,Roberto Freire Santiago; Rezende,Mariana de Moraes; Melo,Karla Fabiana Santana de; Giannella-Neto,Daniel
Fonte: Conselho Brasileiro de Oftalmologia Publicador: Conselho Brasileiro de Oftalmologia
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/06/2006 Português
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PURPOSE: To investigate the phenotype of primary open-angle glaucoma (POAG) in Brazilian families with mutation in exon 3 of TIGR/MYOC. METHODS: Seventy-eight POAG patients with a positive family history and eighteen unrelated patients with POAG were screened by automated DNA sequencing for mutations in exon 3 of the TIGR/MYOC gene. The pedigrees of POAG patients with mutations that lead to amino acid change were built. All available relatives of the index cases were also examined and genotyped by sequencing. RESULTS: Four sequence variants were identified in exon 3 of the TIGR/MYOC gene (Tyr347Tyr, Pro370Pro, Lys398Arg and Cys433Arg) from the 96 initially screened patients. The Lys398Arg mutation was previously described as a polymorphism and in our study did not segregate with POAG. The most prevalent mutation was Cys433Arg, affecting 3 index cases (3.1% or 3/96). In two different families, 8/56 subjects presented Cys433Arg mutation and had POAG, 5/56 had ocular hypertension and 8/56 had no disease manifestation. POAG patients had a median age at diagnosis of 43.25 yr (17-58 yr) and intraocular pressure (IOP) with a mean of 36.3 ± 3.8mmHg for the right eye and 37.6 ± 9.75 mmHg for the left eye. The group of patients with Cys433Arg mutation had significantly higher IOP (p<0.0007) and vertical cup/disc ratio when compared to the patients without mutation (p<0.023). CONCLUSIONS: Cys433Arg mutation in exon 3 of the TIGR/MYOC gene is related to juvenile-onset POAG (J-POAG) in Brazilian families and autosomal dominant inheritance. The phenotype of this mutation is characterized by varied ages at diagnosis...

‣ CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families

Abud,Jamile; Prolla,João Carlos
Fonte: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED Publicador: Instituto Brasileiro de Estudos e Pesquisas de Gastroenterologia - IBEPEGE ; Colégio Brasileiro de Cirurgia Digestiva - CBCD ; Sociedade Brasileira de Motilidade Digestiva - SBMD ; Federação Brasileira de Gastroenterologia - FBG; Sociedade Brasileira de Hepatologia - SBH; Sociedade Brasileira de Endoscopia Digestiva - SOBED
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2012 Português
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CONTEXT: CHEK2 encodes a cell cycle checkpoint kinase that plays an important role in the DNA damage repair pathway, activated mainly by ATM (Ataxia Telangiectasia Mutated) in response to double-stranded DNA breaks. A germline mutation in CHEK2, 1100delC, has been described as a low penetrance allele in a significant number of families with breast and colorectal cancer in certain countries and is also associated with increased risk of contralateral breast cancer in women previously affected by the disease. About 5%-10% of all breast and colorectal cancers are associated with hereditary predisposition and its recognition is of great importance for genetic counseling and cancer risk management. OBJECTIVES: Here, we have assessed the frequency of the CHEK2 1100delC mutation in the germline of 59 unrelated Brazilian individuals with clinical criteria for the hereditary breast and colorectal cancer syndrome. METHODS: A long-range PCR strategy followed by gene sequencing was used. RESULTS: The 1100delC mutation was encountered in the germline of one (1.7%) individual in this high risk cohort. This indicates that the CHEK2 1100delC is not commonly encountered in Brazilian families with multiple diagnoses of breast and colorectal cancer. CONCLUSION: These results should be confirmed in a larger series of families and further testing should be undertaken to investigate the molecular mechanisms underlying the hereditary breast and colorectal cancer phenotype.

‣ Prevalence of mutans streptococci in 93 members from six Brazilian families

PIMENTA,Fabiana Cristina; MARIN,José Moacir; UZEDA,Milton de; ITO,Izabel Yoko
Fonte: Sociedade Brasileira de Pesquisa Odontológica e Faculdade de Odontologia da Universidade de São Paulo Publicador: Sociedade Brasileira de Pesquisa Odontológica e Faculdade de Odontologia da Universidade de São Paulo
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2001 Português
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Several studies report that mutans streptococci (MS) are closely associated with caries in humans and that there is a correlation between the number of carious lesions and the levels of MS in the saliva of children and adults. The presence of MS in the saliva of 93 members of six Brazilian families with at least 3 generations was investigated. Samples of whole unstimulated saliva were collected and diluted. Aliquots of 50 mul of each suspension were dropped onto SB20 agar and incubated in a candle jar at 37°C for 72h. Colonies resembling MS were counted, collected, seeded in thioglycollate medium and subjected to biochemical typing. Mutans streptococci were isolated from 80 subjects (86.0%) and the counts ranged from 3.0 x 10² (log 2.477) to 1.6 x 10(8) (log 8.204) CFU/ml of saliva. All of the 73 adults were colonized by MS, but the bacteria were detected in only 7 (35.0%) of the 20 children evaluated. Streptococcus mutans occurred in 78 subjects (97.5%), and 51 (63.7%) were monocolonized. S. sobrinus occurred in 29 individuals (36.3%) and 2 (2.5%) were monocolonized. Twenty-seven (33.8%) subjects were multicolonized with S. mutans and S. sobrinus. This study showed a high prevalence (86.0%) of mutans streptococci in the saliva of members of the studied families...

‣ Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno, M R; Moreira, E S; Marie, S K; Bashir, R; Vasquez, L; Love, D R; Vainzof, M; Iughetti, P; Oliveira, J R; Bakker, E; Strachan, T; Bushby, K; Zatz, M
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /02/1996 Português
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Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a group of muscle diseases with a wide spectrum of clinical signs, varying from very severe to mild. Four different loci that when mutated cause the AR LGMD phenotype have been mapped or cloned or both: in two of them the linked families seem to have a relatively mild phenotype (LGMD2a and LGMD2b), in the third one the reported linked families show a more severe clinical course (LGMD2c), while mutations in the fourth locus may cause severe or mild phenotypes (LGMD2d). The relative proportion of each of these genetic forms among the LGMD families and whether there are other genes that when mutated cause this phenotype is unknown. The closest available informative markers for each of the mapped AR LGMD genes have been tested in 13 Brazilian families with at least three affected patients. The findings from the present report confirm non-allelic heterogeneity for LGMD and suggest that in our population about 33% of the LGMD families are caused by mutations in the 15q gene, 33% in the 2p gene, 17% by mutations in the adhalin gene, and less than 10% may be by mutations at the 13q locus. They also suggest that there is at least one other gene responsible for this phenotype. In addition...

‣ Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

Santos, Maria CLG; Hart, P Suzanne; Ramaswami, Mukundhan; Kanno, Cláudia M; Hart, Thomas C; Line, Sergio RP
Fonte: BioMed Central Publicador: BioMed Central
Tipo: Artigo de Revista Científica
Publicado em 31/01/2007 Português
Relevância na Pesquisa
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Amelogenesis imperfecta (AI) is a genetically heterogeneous group of diseases that result in defective development of tooth enamel. Mutations in several enamel proteins and proteinases have been associated with AI. The object of this study was to evaluate evidence of etiology for the six major candidate gene loci in two Brazilian families with AI. Genomic DNA was obtained from family members and all exons and exon-intron boundaries of the ENAM, AMBN, AMELX, MMP20, KLK4 and Amelotin gene were amplified and sequenced. Each family was also evaluated for linkage to chromosome regions known to contain genes important in enamel development. The present study indicates that the AI in these two families is not caused by any of the known loci for AI or any of the major candidate genes proposed in the literature. These findings indicate extensive genetic heterogeneity for non-syndromic AI.

‣ Pfeiffer syndrome: Clinical and genetic findings in five Brazilian families

Júnior, Hercílio-Martelli; de Aquino, Sibele-Nascimento; Machado, Renato-Assis; Leão, Letícia-Lima; Coletta, Ricardo- Della; Burle-Aguiar, Marcos-José
Fonte: Medicina Oral S.L. Publicador: Medicina Oral S.L.
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
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Pfeiffer syndrome (PS) is mainly characterized by craniosysnostosis, midface hypoplasia, great toes with partial syndactyly of the digits and broad and medially deviated thumbs. It is caused by allelic mutations in the fibroblast growth factor receptor 1 and 2 (FGFR1 and 2) genes. This study describes the clinical and genetic features of five Brazilian families affected by PS. All patients exhibited the classical phenotypes related to PS. The genetic analysis was able to detect the mutations Cys278Phe, Cys342Arg, and Val359Leu in three of these families. Two mutations were de novo, with one familial. We identified pathogenic mutations in four PS cases in five Brazilian families by PCR sequencing of FGFR1 exon 5 and FGFR2 exons 5, 8, 10, 11, 15, and 16. The clinical and genetic aspects of these families confirm that this syndrome can be clinically variable, with different mutations in the FGFR2 responsible for PS.

‣ Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor

Moreno, Adriana S.; Valle, Solange O. R.; Levy, Soloni; Franca, Alfeu T.; Serpa, Faradiba S.; Arcuri, Helen A.; Palma, Mario S.; Campos, Wagner N.; Dias, Marina M.; Ponard, Denise; Monnier, Nicole; Lunardi, Joel; Bork, Konrad; Silva, Wilson Araujo; Karla
Fonte: Karger Publicador: Karger
Tipo: Artigo de Revista Científica Formato: 114-120
Português
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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP); Background: Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) is a rare disorder. Mutations of the gene encoding coagulation factor XII have been identified in a subset of patients with this condition. Our aim was to investigate mutations in the F12 gene in patients with HAE with normal C1-INH from Brazil. Methods: We studied 5 Brazilian families with index female patients who presented with recurrent angioedema with normal C1-INH and C4 levels. Genomic DNA was isolated from whole blood and PCR was performed. Mutations were detected by the sequencing of exon 9 of the F12 gene and allelic discrimination. Results: The c.983C>A (p.Thr328Lys) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women). Mean age at onset of symptoms among the FXII-HAE patients was 13.8 years (range 6-25 years). Recurrent abdominal pain (100%) and subcutaneous angioedema (87.5%) were the most frequent clinical presentations. Two patients presented with associated laryngeal edema. In keeping with previous observations in patients with both C1-INH-HAE and HAE with normal C1-INH...

‣ New mutations in the GLA gene in Brazilian families with Fabry disease

Turaca, Lauro Thiago; Pessoa, Juliana Gilbert; Motta, Fabiana Louise; Munoz Rojas, Maria Veronica; Mueller, Karen Barbosa; Lourenço, Charles Marques; Marques Júnior, Wilson; D'Almeida, Vania; Martins, Ana Maria; Pesquero, Joao Bosco
Fonte: NATURE PUBLISHING GROUP; NEW YORK Publicador: NATURE PUBLISHING GROUP; NEW YORK
Tipo: Artigo de Revista Científica
Português
Relevância na Pesquisa
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Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replacement trials and offering the possibility to perform prenatal diagnosis. Journal of Human Genetics (2012) 57...

‣ The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

Teive,Hélio A.G.; Raskin,Salmo; Iwamoto,Fábio M.; Germiniani,Francisco M.B.; Baran,Maria H.H.; Werneck,Lineu C.; Allan,Nasser; Quagliato,Elizabeth; Leroy,Elisabeth; Ide,Susan E.; Polymeropoulos,Mihael H.
Fonte: Academia Brasileira de Neurologia - ABNEURO Publicador: Academia Brasileira de Neurologia - ABNEURO
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/09/2001 Português
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A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

‣ Home is Where the Hurt Is: Racial Socialization, Stigma, and Well-Being in Afro-Brazilian Families

Freeman, Elizabeth Hordge
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Dissertação
Publicado em //2012 Português
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This dissertation examines racial socialization in Afro-Brazilian families in order to understand how phenotypically diverse families negotiate racial hierarchies and ideologies of white supremacy. As an inductive, qualitative project, this research is based on over fourteen months of ethnographic fieldwork in Salvador, Bahia, Brazil in fifteen poor and working-class Bahian families and 116 semi-structured interviews with family members and informants. Findings suggest that one of the most prominent features of racial socialization is the pervasive devaluation of black/African influences, which is conveyed through implicit and explicit messages as well as concrete practices (including rituals) that promote the stigmatization of negatively valued racialized physical features. The study reveals a pattern of unequal distribution of affection based on racial appearance (phenotype), which is evident in parent-child, sibling, extended family, and romantic relationships. Findings suggest that negative appraisals of racial phenotype may significantly compromise affective bonds in families and have social psychological consequences impacting self-esteem and sense of belonging, while also eliciting suicidal ideations and anxieties. These outcomes are most pronounced for Afro-Brazilian females. Racial socialization also conveys the "strategically ambiguous" logic of color and racial classification...